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glykogenóza, typ II

  1. Subject h.glykogenóza, typ II
    Subject h.Glycogen Storage Disease Type II
    Entry termschoroba z ukladania glykogénu, typ II
    choroba z deficitu kyslej maltázy
    choroba z nedostatku kyslej maltázy
    glykogenóza generalizovaná
    glykogenóza 2
    choroba z deficitu lyzozómovej alfa-1,4-glukozidázy
    choroba z nedostatku lyzozómovej alfa-1,4-glukozidázy
    Pompeho choroba
    morbus Pompe
    English X referencesAcid Maltase Deficiency Disease
    Generalized Glycogenosis
    Glycogenosis 2
    Lysosomal alpha-1,4-Glucosidase Deficiency Disease
    Pompe Disease
    Scope note in EnglishAn autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
    See also reference (FX) in Slovak glukán 1,4-alfa-glukozidáza
    See also reference (FX) in English Glucan 1,4-alpha-Glucosidase
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